NM_001360.3(DHCR7):c.832G>C (p.Ala278Pro) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002440863.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.832G>C (p.Ala278Pro)]

NM_001360.3(DHCR7):c.832G>C (p.Ala278Pro)

Gene:

DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_001360.3(DHCR7):c.832G>C (p.Ala278Pro)

HGVS:

NC_000011.10:g.71437943C>G
NG_012655.2:g.15489G>C
NM_001163817.2:c.832G>C
NM_001360.3:c.832G>CMANE SELECT
NP_001157289.1:p.Ala278Pro
NP_001351.2:p.Ala278Pro
LRG_340t1:c.832G>C
LRG_340:g.15489G>C
NC_000011.9:g.71148989C>G
NM_001360.2:c.832G>C

Protein change:

A278P

Links:

dbSNP: rs2135941944

NCBI 1000 Genomes Browser:

rs2135941944

Molecular consequence:

NM_001163817.2:c.832G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001360.3:c.832G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

LOC102695568 [Lepisosteus oculatus]
LOC102695568 [Lepisosteus oculatus]
Gene ID:102695568

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002676602	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 26, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002676602

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 26, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002676602.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.A278P variant (also known as c.832G>C) is located in coding exon 6 of the DHCR7 gene. The alanine at codon 278 is replaced by proline, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 6. This variant has been detected in cis with a pathogenic mutation in DHCR7 by our laboratory. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine